Foundation for Sarcoidosis Research (FSR)
Cycle 2
Sarcoidosis is an inflammatory disease characterized by the formation of granulomas—tiny clumps of inflammatory cells—in one or more organs of the body. When the immune system goes into overdrive and too many of these clumps form, they can interfere with an organ’s structure and function. When left unchecked, chronic inflammation can lead to fibrosis, which is the permanent scarring of organ tissue.
Last updated 04/30/2025
Clinical
Disease Class
Cardiac diseases
Diseases due to toxic effects
Disorder without a determined diagnosis after full investigation
Gastroenterological diseases
Immunological diseases
Neurological diseases
Ophthalmic diseases
Renal diseases
Respiratory diseases
Skin diseases
Systemic and rheumatological diseases
Transplant-related diseases
Body Systems
Cardiovascular / Circulatory
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Adrenal glands
Arteries
Bladder
Blood
Bone marrow
Bones
Brain
Breasts
Connective tissue / joints
Ears
Esophagus
Eyes
Gallbladder
Hair
Heart
Intestines
Kidneys
Liver
Lungs
Lymph fluid, nodes, ducts, vessels
Mouth / teeth
Muscles
Nerves
Nose
Ovaries
Pancreas
Pituitary glands
Skin
Spinal cord
Spleen
Stomach
Testes
Throat/pharynx
Thyroid
Tonsils
Veins
Known Genetic Link
Yes, there are both genes that cause the condition and genetic factors that contribute
causative_genes
HLA-DRB1
contributory_genes
None specified / unknown
Type of Inheritance
Not specified / unknown
Newborn Screening
Not applicable
Disease Mechanism(s)
Aberrant immune response
Autoimmune
Autoinflammatory disorder
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Middle childhood (6-11)
Average Age at Diagnosis
Adulthood (age 18-64)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Intersex
Male
National Prevalence
10000+
Global Prevalence
10000+
National Incidence
51-100
Global Incidence
101-1000
Populations and/or ancestry with higher prevalence
African Americans 2-3x higher prevalence , Veterans 5 x higher prevalence, Japanese (cardiac only), Scandinavian countries
Symptoms / Phenotypes
balance problems
behavioral changes
breathing difficulties
cardiac abnormalities
cognitive impairment / confusion / brain fog
edema
fainting / syncope
fatigue
gastrointestinal disorders
headaches / migraines
joint pain / arthralgia
neuropathic pain
pain, chest
skin redness and/or swelling
sleep disorders
subcutaneous nodules
swollen lymph nodes
vertigo
vision problems
vitiligo
vomiting / nausea
weight gain
Biomarkers
Diagnostic
· serum and bronchoalveolar lavage biomarkers, imaging (chest x-ray, MRI, FDG-PET, CT), biopsy, ACE levels tools and cell signaling pathways. Fluor-18-deoxyglucose positron emission tomography and high-resolution computed tomography
Monitoring
· PROs, FDG-PET, CT, MRI, ACE Levelserum amyloid A (SAA), soluble interleukin-2 receptor (sIL-2R), lysozyme, angiotensin-converting enzyme (ACE), the glycoprotein KL-6, Pfts,levels of neopterin, elastase, chitotriosidase, glycoprotein Krebs von den Lungen, Th17 cell count, reduced quantity of TNF-α in peripheral blood or bronchoalveolar lavage fluid
Prognostic
· FDG-PET inflammation level, ACE, levels of neopterin, elastase, sIL-2R, chitotriosidase, glycoprotein Krebs von den Lungen, Th17 cell count, reduced quantity of TNF-α in peripheral blood or bronchoalveolar lavage fluid
Existing Therapies
Complementary and Alternative treatments
· anti-inflammatory diet, exercise, meditation/mindfulness
Expanded access (Compassionate Use)
FDA-Approved for Symptom Relief
· Corticotrophin, Ofev, Prednisone
Off-Label Drug Use
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
Mouse
Other
Disease Model, Involvement
Funded
Disease Model, share
No
Clinical Trial Role
Data analysis
Data sharing
Focus group
Funding
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Travel coordination
Biobank, Institution
National Disease Research Interchange (NDRI)
Biobank, Involvement
Consulted
Designed
Center of Excellence, Institution
Baylor College of Medicine
Cedars-Sinai
Cleveland Clinic
Corewell Health
Emory University
Henry Ford Health
Hospital for Special Surgery
Inova Health
Jefferson Health
Lahey Hospital
MedStar Hospital
Mt. Sinai
National Jewish Health
Northwestern Memorial Hospital
Oklahoma Medical Research Foundation (OMRF)
Rutgers University
SUNY Upstate
Stanford University
Tampa General Hospital
Temple University Hospital
UTHealth Houston (The University of Texas Health Science Center at Houston)
University of Alabama
University of California, Los Angeles (UCLA)
University of Florida
University of Illinois Chicago
University of Kentucky
University of Minnesota
University of Mississippi
University of North Carolina (UNC)
University of Oklahoma
University of Texas Southwestern Medical Center (UTSW)
University of Virginia (UVA)
Vanderbilt University
Virginia Commonwealth University
Washington University
WellSpan Health
West Virginia University Medicine
Yale University Hospital
Center of Excellence, Involvement
Consulted
Designed
Funded
Registry
Yes, we have a registry that we created
Data Collected, Registry
Longitudinal natural history data
Medication usage
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
Matrix
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Matrix
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Yes, we have published formal guidelines in a peer-reviewed journal
Yes, we have accredited guidelines
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Africa
Asia
Europe
Middle East
North America
South America